Linked Data
ClinVar Variation Id:
540362
dbSNP Id:
rs375280565
ExAC:
13:40298636 TTTA / T
gnomAD v2:
13-40298636-TTTA-T
gnomAD v3:
13-39724499-TTTA-T
gnomAD v4:
13-39724499-TTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39724500_39724502del , CM000675.2:g.39724500_39724502del | GRCh38 |
| NC_000013.10:g.40298637_40298639del , CM000675.1:g.40298637_40298639del | GRCh37 |
| NC_000013.9:g.39196637_39196639del | NCBI36 |
| NG_028352.1:g.73874_73876del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.1693-8_1693-6del MANE Select | ENSP00000397441.2:n.1693-8_1693-6del | |
| ENST00000356576.8:c.*1530-8_*1530-6del | ENSP00000348983.4:n.*1530-8_*1530-6del | |
| ENST00000416691.5:c.1693-8_1693-6del | ENSP00000403733.1:n.1693-8_1693-6del | |
| ENST00000455146.7:c.1693-8_1693-6del | ENSP00000397441.2:n.1693-8_1693-6del | |
| NM_001145079.1:c.1693-8_1693-6del | NP_001138551.1:n.1693-8_1693-6del | |
| NM_020751.2:c.1693-8_1693-6del | NP_065802.1:n.1693-8_1693-6del | |
| NR_026745.1:n.1858-8_1858-6del | ||
| XM_011535168.1:c.1693-8_1693-6del | XP_011533470.1:n.1693-8_1693-6del | |
| XM_011535169.1:c.1537-8_1537-6del | XP_011533471.1:n.1537-8_1537-6del | |
| XM_011535170.1:c.1537-8_1537-6del | XP_011533472.1:n.1537-8_1537-6del | |
| NM_020751.3:c.1693-8_1693-6del MANE Select | NP_065802.1:n.1693-8_1693-6del | |
| NM_001145079.2:c.1693-8_1693-6del | NP_001138551.1:n.1693-8_1693-6del |